Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
Myoclonus
Dyskinesia Paroxysmal dyskinesia Motor delay Cerebellar signs Chorea -Motor Dysarthria Facial twitches Axial hypotonia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Seizures
Gait impairment Myoclonus Motor delay Delayed gross motor development Dysarthria Axial hypotonia Dyskinesia Hyperreflexia -Motor Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
-Motor
Dyskinesia Trigger: Anxiety Chorea Tremor (any or unspecified) Postural tremor Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Axial hypotonia
Facial twitches Myoclonus Cognitive impairment Hyperreflexia Chorea Dyskinesia -Motor Cerebellar signs Dysarthria Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Dystonia, axial
Motor delay -Motor Dystonia, limb Muscular hypotonia Dyskinesia Gait impairment Axial hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|